Nature, genetics and the Niven factor - pp805 - 806

Kevin Davies

doi:10.1038/ng0707-805

Full Text - Nature, genetics and the Niven factor | PDF (225 KB) - Nature, genetics and the Niven factor

On the design and analysis of gene expression studies in human populations - pp807 - 808

Joshua M Akey, Shameek Biswas, Jeffrey T Leek & John D Storey

doi:10.1038/ng0707-807

Full Text - On the design and analysis of gene expression studies in human populations | PDF (391 KB) - On the design and analysis of gene expression studies in human populations

Reply to "On the design and analysis of gene expression studies in human populations" - pp808 - 809

Richard S Spielman & Vivian G Cheung

doi:10.1038/ng0707-808

Full Text - Reply to "On the design and analysis of gene expression studies in human populations" | PDF (123 KB) - Reply to "On the design and analysis of gene expression studies in human populations"

The spandrels of the genome - p811

Daniel Hartl reviews The Origins of Genome Architecture by Michael Lynch

doi:10.1038/ng0707-811

Full Text - The spandrels of the genome | PDF (279 KB) - The spandrels of the genome

Guilt beyond a reasonable doubt - pp813 - 815

David Altshuler & Mark Daly

doi:10.1038/ng0707-813

Full Text - Guilt beyond a reasonable doubt | PDF (141 KB) - Guilt beyond a reasonable doubt | Supplementary information

See also: Brief Communication by Parkes et al. | Letter by Todd et al.

Conjuring SNPs to detect associations - pp815 - 816

Andrew G Clark & Jian Li

doi:10.1038/ng0707-815

Full Text - Conjuring SNPs to detect associations | PDF (212 KB) - Conjuring SNPs to detect associations

See also: Technical Report by Marchini et al.

ENCODE and our very busy genome - pp817 - 818

Steven Henikoff

doi:10.1038/ng0707-817

Full Text - ENCODE and our very busy genome | PDF (198 KB) - ENCODE and our very busy genome

Clinical variability in ciliary disorders - pp818 - 819

Kirk Mykytyn

doi:10.1038/ng0707-818

Full Text - Clinical variability in ciliary disorders | PDF (125 KB) - Clinical variability in ciliary disorders

See also: Letter by Delous et al. | Letter by Arts et al.

Wnt signaling in focal dermal hypoplasia - pp820 - 821

Amy S Paller

doi:10.1038/ng0707-820

Full Text - Wnt signaling in focal dermal hypoplasia | PDF (302 KB) - Wnt signaling in focal dermal hypoplasia

See also: Brief Communication by Grzeschik et al. | Brief Communication by Wang et al.

Touching base - p823

doi:10.1038/ng0707-823

Full Text - Touching base | PDF (523 KB) - Touching base

Research highlights - p825

doi:10.1038/ng0707-825

Full Text - Research highlights | PDF (80 KB) - Research highlights

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 - pp827 - 829

David A van Heel, Lude Franke, Karen A Hunt, Rhian Gwilliam, Alexandra Zhernakova, Mike Inouye, Martin C Wapenaar, Martin C N M Barnardo, Graeme Bethel, Geoffrey K T Holmes, Con Feighery, Derek Jewell, Dermot Kelleher, Parveen Kumar, Simon Travis, Julian RF Walters, David S Sanders, Peter Howdle, Jill Swift, Raymond J Playford, William M McLaren, M Luisa Mearin, Chris J Mulder, Ross McManus, Ralph McGinnis, Lon R Cardon, Panos Deloukas & Cisca Wijmenga

doi:10.1038/ng2058

Abstract - A genome-wide association study for celiac disease identifies risk variants in the region harboring : IL2: and : IL21 | Full Text - A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 | PDF (211 KB) - A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 | Supplementary information

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility - pp830 - 832

Miles Parkes, Jeffrey C Barrett, Natalie J Prescott, Mark Tremelling, Carl A Anderson, Sheila A Fisher, Roland G Roberts, Elaine R Nimmo, Fraser R Cummings, Dianne Soars, Hazel Drummond, Charlie W Lees, Saud A Khawaja, Richard Bagnall, Denis A Burke, Catherine E Todhunter, Tariq Ahmad, Clive M Onnie, Wendy McArdle, David Strachan, Graeme Bethel, Claire Bryan, Cathryn M Lewis, Panos Deloukas, Alastair Forbes, Jeremy Sanderson, Derek P Jewell, Jack Satsangi, John C Mansfield, the Wellcome Trust Case Control Consortium, Lon Cardon & Christopher G Mathew

doi:10.1038/ng2061

Abstract - Sequence variants in the autophagy gene : IRGM: and multiple other replicating loci contribute to Crohn's disease susceptibility | Full Text - Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility | PDF (191 KB) - Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility | Supplementary information

See also: News and Views by Altshuler & Daly

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia - pp833 - 835

Karl-Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner, Arne König, María del Carmen Boente, Herbert Enders, Barbara Fritz, Michael Hertl, Ute Grasshoff, Katja Höfling, Vinzenz Oji, Mauro Paradisi, Christian Schuchardt, Zsuzsanna Szalai, Gianluca Tadini, Heiko Traupe & Rudolf Happle

doi:10.1038/ng2052

Abstract - Deficiency of : : PORCN: : , a regulator of : : Wnt: : signaling, is associated with focal dermal hypoplasia | Full Text - Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia | PDF (263 KB) - Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia | Supplementary information

See also: News and Views by Paller

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia - pp836 - 838

Xiaoling Wang, V Reid Sutton, J Omar Peraza-Llanes, Zhiyin Yu, Rebecca Rosetta, Ying-Chuck Kou, Tanya N Eble, Ankita Patel, Christina Thaller, Ping Fang & Ignatia B Van den Veyver

doi:10.1038/ng2057

Abstract - Mutations in X-linked : : PORCN: : , a putative regulator of : : Wnt: : signaling, cause focal dermal hypoplasia | Full Text - Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia | PDF (240 KB) - Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia | Supplementary information

See also: News and Views by Paller

Comparative genomic analysis of three Leishmania species that cause diverse human disease - pp839 - 847

Christopher S Peacock, Kathy Seeger, David Harris, Lee Murphy, Jeronimo C Ruiz, Michael A Quail, Nick Peters, Ellen Adlem, Adrian Tivey, Martin Aslett, Arnaud Kerhornou, Alasdair Ivens, Audrey Fraser, Marie-Adele Rajandream, Tim Carver, Halina Norbertczak, Tracey Chillingworth, Zahra Hance, Kay Jagels, Sharon Moule, Doug Ormond, Simon Rutter, Rob Squares, Sally Whitehead, Ester Rabbinowitsch, Claire Arrowsmith, Brian White, Scott Thurston, Frédéric Bringaud, Sandra L Baldauf, Adam Faulconbridge, Daniel Jeffares, Daniel P Depledge, Samuel O Oyola, James D Hilley, Loislene O Brito, Luiz R O Tosi, Barclay Barrell, Angela K Cruz, Jeremy C Mottram, Deborah F Smith & Matthew Berriman

doi:10.1038/ng2053

Abstract - Comparative genomic analysis of three : Leishmania: species that cause diverse human disease | Full Text - Comparative genomic analysis of three Leishmania species that cause diverse human disease | PDF (721 KB) - Comparative genomic analysis of three Leishmania species that cause diverse human disease | Supplementary information

Intra- and intercellular RNA interference in Arabidopsis thaliana requires components of the microRNA and heterochromatic silencing pathways - pp848 - 856

Patrice Dunoyer, Christophe Himber, Virginia Ruiz-Ferrer, Abdelmalek Alioua & Olivier Voinnet

doi:10.1038/ng2081

Abstract - Intra- and intercellular RNA interference in : Arabidopsis thaliana: requires components of the microRNA and heterochromatic silencing pathways | Full Text - Intra- and intercellular RNA interference in Arabidopsis thaliana requires components of the microRNA and heterochromatic silencing pathways | PDF (746 KB) - Intra- and intercellular RNA interference in Arabidopsis thaliana requires components of the microRNA and heterochromatic silencing pathways | Supplementary information

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes - pp857 - 864

John A Todd, Neil M Walker, Jason D Cooper, Deborah J Smyth, Kate Downes, Vincent Plagnol, Rebecca Bailey, Sergey Nejentsev, Sarah F Field, Felicity Payne, Christopher E Lowe, Jeffrey S Szeszko, Jason P Hafler, Lauren Zeitels, Jennie H M Yang, Adrian Vella, Sarah Nutland, Helen E Stevens, Helen Schuilenburg, Gillian Coleman, Meeta Maisuria, William Meadows, Luc J Smink, Barry Healy, Oliver S Burren, Alex A C Lam, Nigel R Ovington, James Allen, Ellen Adlem, Hin-Tak Leung, Chris Wallace, Joanna M M Howson, Cristian Guja, Constantin Ionescu-Tîrgovişte, Genetics of Type 1 Diabetes in Finland, Matthew J Simmonds, Joanne M Heward, Stephen C L Gough, David B Dunger, the Wellcome Trust Case Control Consortium, Linda S Wicker & David G Clayton

doi:10.1038/ng2068

First paragraph - Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes | Full Text - Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes | PDF (224 KB) - Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes | Supplementary information

See also: News and Views by Altshuler & Daly

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer - pp865 - 869

Simon N Stacey, Andrei Manolescu, Patrick Sulem, Thorunn Rafnar, Julius Gudmundsson, Sigurjon A Gudjonsson, Gisli Masson, Margret Jakobsdottir, Steinunn Thorlacius, Agnar Helgason, Katja K Aben, Luc J Strobbe, Marjo T Albers-Akkers, Dorine W Swinkels, Brian E Henderson, Laurence N Kolonel, Loic Le Marchand, Esther Millastre, Raquel Andres, Javier Godino, Maria Dolores Garcia-Prats, Eduardo Polo, Alejandro Tres, Magali Mouy, Jona Saemundsdottir, Valgerdur M Backman, Larus Gudmundsson, Kristleifur Kristjansson, Jon T Bergthorsson, Jelena Kostic, Michael L Frigge, Frank Geller, Daniel Gudbjartsson, Helgi Sigurdsson, Thora Jonsdottir, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Thorvaldur Jonsson, Susanna von Holst, Barbro Werelius, Sara Margolin, Annika Lindblom, Jose I Mayordomo, Christopher A Haiman, Lambertus A Kiemeney, Oskar Th Johannsson, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong & Kari Stefansson

doi:10.1038/ng2064

First paragraph - Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer | Full Text - Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer | PDF (163 KB) - Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer | Supplementary information

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer - pp870 - 874

David J Hunter, Peter Kraft, Kevin B Jacobs, David G Cox, Meredith Yeager, Susan E Hankinson, Sholom Wacholder, Zhaoming Wang, Robert Welch, Amy Hutchinson, Junwen Wang, Kai Yu, Nilanjan Chatterjee, Nick Orr, Walter C Willett, Graham A Colditz, Regina G Ziegler, Christine D Berg, Saundra S Buys, Catherine A McCarty, Heather Spencer Feigelson, Eugenia E Calle, Michael J Thun, Richard B Hayes, Margaret Tucker, Daniela S Gerhard, Joseph F Fraumeni, Jr, Robert N Hoover, Gilles Thomas & Stephen J Chanock

doi:10.1038/ng2075

First paragraph - A genome-wide association study identifies alleles in : FGFR2: associated with risk of sporadic postmenopausal breast cancer | Full Text - A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer | PDF (926 KB) - A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer | Supplementary information

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome - pp875 - 881

Marion Delous, Lekbir Baala, Rémi Salomon, Christine Laclef, Jeanette Vierkotten, Kàlmàn Tory, Christelle Golzio, Tiphanie Lacoste, Laurianne Besse, Catherine Ozilou, Imane Moutkine, Nathan E Hellman, Isabelle Anselme, Flora Silbermann, Christine Vesque, Christoph Gerhardt, Eleanor Rattenberry, Matthias T F Wolf, Marie Claire Gubler, Jéléna Martinovic, Féréchté Encha-Razavi, Nathalie Boddaert, Marie Gonzales, Marie Alice Macher, Hubert Nivet, Gérard Champion, Jean Pierre Berthélémé, Patrick Niaudet, Fiona McDonald, Friedhelm Hildebrandt, Colin A Johnson, Michel Vekemans, Corinne Antignac, Ulrich Rüther, Sylvie Schneider-Maunoury, Tania Attié-Bitach & Sophie Saunier

doi:10.1038/ng2039

First paragraph - The ciliary gene : RPGRIP1L: is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome | Full Text - The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome | PDF (672 KB) - The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome | Supplementary information

See also: News and Views by Mykytyn

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome - pp882 - 888

Heleen H Arts, Dan Doherty, Sylvia E C van Beersum, Melissa A Parisi, Stef J F Letteboer, Nicholas T Gorden, Theo A Peters, Tina Märker, Krysta Voesenek, Aileen Kartono, Hamit Ozyurek, Federico M Farin, Hester Y Kroes, Uwe Wolfrum, Han G Brunner, Frans P M Cremers, Ian A Glass, Nine V A M Knoers & Ronald Roepman

doi:10.1038/ng2069

First paragraph - Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome | Full Text - Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome | PDF (565 KB) - Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome | Supplementary information

See also: News and Views by Mykytyn

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis - pp889 - 895

Anneke I den Hollander, Robert K Koenekoop, Moin D Mohamed, Heleen H Arts, Karsten Boldt, Katherine V Towns, Tina Sedmak, Monika Beer, Kerstin Nagel-Wolfrum, Martin McKibbin, Sharola Dharmaraj, Irma Lopez, Lenka Ivings, Grange A Williams, Kelly Springell, C Geoff Woods, Hussain Jafri, Yasmin Rashid, Tim M Strom, Bert van der Zwaag, Ilse Gosens, Ferry F J Kersten, Erwin van Wijk, Joris A Veltman, Marijke N Zonneveld, Sylvia E C van Beersum, Irene H Maumenee, Uwe Wolfrum, Michael E Cheetham, Marius Ueffing, Frans P M Cremers, Chris F Inglehearn & Ronald Roepman

doi:10.1038/ng2066

First paragraph - Mutations in : : LCA5: : , encoding the ciliary protein lebercilin, cause Leber congenital amaurosis | Full Text - Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis | PDF (407 KB) - Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis | Supplementary information

Natural variation for sulfate content in Arabidopsis thaliana is highly controlled by APR2 - pp896 - 900

Olivier Loudet, Vera Saliba-Colombani, Christine Camilleri, Fanny Calenge, Virginie Gaudon, Anna Koprivova, Kathryn A North, Stanislav Kopriva & Françoise Daniel-Vedele

doi:10.1038/ng2050

First paragraph - Natural variation for sulfate content in : Arabidopsis thaliana: is highly controlled by APR2 | Full Text - Natural variation for sulfate content in Arabidopsis thaliana is highly controlled by APR2 | PDF (233 KB) - Natural variation for sulfate content in Arabidopsis thaliana is highly controlled by APR2 | Supplementary information

A conserved microRNA module exerts homeotic control over Petunia hybrida and Antirrhinum majus floral organ identity - pp901 - 905

Maria Cartolano, Rosa Castillo, Nadia Efremova, Markus Kuckenberg, Jan Zethof, Tom Gerats, Zsuzsanna Schwarz-Sommer & Michiel Vandenbussche

doi:10.1038/ng2056

First paragraph - A conserved microRNA module exerts homeotic control over : Petunia hybrida: and : Antirrhinum majus: floral organ identity | Full Text - A conserved microRNA module exerts homeotic control over Petunia hybrida and Antirrhinum majus floral organ identity | PDF (501 KB) - A conserved microRNA module exerts homeotic control over Petunia hybrida and Antirrhinum majus floral organ identity | Supplementary information

A new multipoint method for genome-wide association studies by imputation of genotypes - pp906 - 913

Jonathan Marchini, Bryan Howie, Simon Myers, Gil McVean & Peter Donnelly

doi:10.1038/ng2088

Abstract - A new multipoint method for genome-wide association studies by imputation of genotypes | Full Text - A new multipoint method for genome-wide association studies by imputation of genotypes | PDF (539 KB) - A new multipoint method for genome-wide association studies by imputation of genotypes | Supplementary information

See also: News and Views by Clark & Li

Tissue-specific and reversible RNA interference in transgenic mice - pp914 - 921

Ross A Dickins, Katherine McJunkin, Eva Hernando, Prem K Premsrirut, Valery Krizhanovsky, Darren J Burgess, Sang Yong Kim, Carlos Cordon-Cardo, Lars Zender, Gregory J Hannon & Scott W Lowe

doi:10.1038/ng2045

Abstract - Tissue-specific and reversible RNA interference in transgenic mice | Full Text - Tissue-specific and reversible RNA interference in transgenic mice | PDF (709 KB) - Tissue-specific and reversible RNA interference in transgenic mice | Supplementary information

Toward simpler and faster genome-wide mutagenesis in mice - pp922 - 930

Sen Wu, Guoxin Ying, Qiang Wu & Mario R Capecchi

doi:10.1038/ng2060

Abstract - Toward simpler and faster genome-wide mutagenesis in mice | Full Text - Toward simpler and faster genome-wide mutagenesis in mice | PDF (364 KB) - Toward simpler and faster genome-wide mutagenesis in mice | Supplementary information